Exploring the experiences of living at risk of familial frontotemporal dementia. (December 2021)

• Record Type: Journal Article
• Authors: Greaves, Caroline V; Stott, Joshua; Rohrer, Jonathan D
• Is Part Of: Alzheimer's & dementia. Volume 17(2021)Supplement 7
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-12
• Subjects: Alzheimer's disease -- Periodicals; Alzheimer Disease -- Periodicals; Dementia -- Periodicals; Démence; Maladie d'Alzheimer; Périodique électronique (Descripteur de forme); Ressource Internet (Descripteur de forme); 616.83
• DOI: 10.1002/alz.052338
• Languages: English
• ISSNs: 1552-5260

Abstract

Abstract: Background: Frontotemporal dementia is the second most common form of dementia in those under 65 years of age and is found to be genetic in around a third of cases. Familial FTD has an autosomal dominant pattern of inheritance meaning that the offspring of a mutation carrier has a 50% chance of carrying the mutation themselves. For those at risk of FTD, there are a number of issues that can cause distress including the high penetrance of the most common FTD‐causing genes, heterogeneity of symptoms and unpredictable age of symptom onset. Despite this, there have been no studies looking at the experiences of this group, particularly those who do not pursue predictive testing. Method: Sixteen qualitative interviews were analysed using an inductive approach to thematic analysis. Participants were asked about their experience finding out about their risk, how they felt throughout different parts of their journey, their experience of genetic testing if this was performed, as well as the support they had or feel they would have benefited from. Result: Key themes identified included: 1) Depression, uncertainty and survivor guilt – the ups and downs of living at‐risk, 2) Worries about the wider family, 3) Lack of support ‐ "You need people who really understand", 4) Coping mechanisms ‐ Living like a gene carrier and 5) Seeing at risk status as a positive thing. Almost all participants expressed a need for tailored psychological support facilitated by "someone who understands" the unique issues they face. Conclusion: Living at risk of familial FTD is a psychologically challenging experience, independent of the challenges presented by predictive testing. Those who choose not to undergo predictive testing may also, at times, require specific support. Future research should explore tailored support strategies to assist people in coping with these challenges.